Canonical Allele Identifier: CA859158

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2061386
• ClinVar RCV Id: RCV002942685
• dbSNP Id: rs576822710
• ExAC: 1:53676597 C / G
• gnomAD v2: 1-53676597-C-G
• gnomAD v3: 1-53210925-C-G
• gnomAD v4: 1-53210925-C-G
• MyVariant Identifiers: chr1:g.53676597C>G (hg19) ; chr1:g.53210925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210925C>G , CM000663.2:g.53210925C>G	GRCh38
NC_000001.10:g.53676597C>G , CM000663.1:g.53676597C>G	GRCh37
NC_000001.9:g.53449185C>G	NCBI36
NG_008035.1:g.19497C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1251C>G MANE Select	ENSP00000360541.3:p.Phe417Leu
ENST00000635862.1:c.1251C>G	ENSP00000490867.1:p.Phe417Leu
ENST00000635888.1:c.*1237C>G	ENSP00000490042.1:n.*1237C>G
ENST00000636239.1:c.*898C>G	ENSP00000490066.1:n.*898C>G
ENST00000636867.1:c.1251C>G	ENSP00000489631.1:p.Phe417Leu
ENST00000636891.1:c.1251C>G	ENSP00000490399.1:p.Phe417Leu
ENST00000636935.1:c.341-2339C>G	ENSP00000489757.1:n.341-2339C>G
ENST00000637252.1:c.1251C>G	ENSP00000490492.1:p.Phe417Leu
ENST00000637726.1:n.3451C>G
ENST00000638135.1:c.*898C>G	ENSP00000489756.1:n.*898C>G
ENST00000371486.3:c.1251C>G	ENSP00000360541.3:p.Phe417Leu
NM_000098.2:c.1251C>G	NP_000089.1:p.Phe417Leu
XM_005270484.1:c.1251C>G	XP_005270541.1:p.Phe417Leu
NM_001330589.1:c.1251C>G	NP_001317518.1:p.Phe417Leu
NM_000098.3:c.1251C>G MANE Select	NP_000089.1:p.Phe417Leu
NM_001330589.2:c.1251C>G	NP_001317518.1:p.Phe417Leu